Variant report

Variant	rs4972530
Chromosome Location	chr2:173989752-173989753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173938392..173941767-chr2:173987528..173992085,5	MCF-7	breast:
2	chr2:173988691..173991779-chr2:173993829..173996976,3	K562	blood:
3	chr2:173989210..173991573-chr2:173993201..173996190,3	MCF-7	breast:
4	chr2:173987726..173990212-chr8:91575317..91577532,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10930577	0.86[ASN][1000 genomes]
rs10930578	0.86[ASN][1000 genomes]
rs11679192	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11885351	0.86[ASN][1000 genomes]
rs1347988	0.82[AFR][1000 genomes]
rs1545516	0.84[EUR][1000 genomes]
rs17760899	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2034647	0.84[EUR][1000 genomes]
rs35464261	0.86[ASN][1000 genomes]
rs3754745	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6727541	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6735275	0.86[ASN][1000 genomes]
rs6758859	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7604338	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9636294	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4972530	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:173968600-173990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:173974800-173991400	Weak transcription	K562	blood
6	chr2:173978200-173995200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
8	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
9	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:173984400-173994200	Weak transcription	Gastric	stomach
11	chr2:173984400-173994600	Weak transcription	Pancreas	Pancrea
12	chr2:173984600-173994800	Weak transcription	Liver	Liver
13	chr2:173984600-173995400	Weak transcription	Fetal Stomach	stomach
14	chr2:173984800-173991400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:173985200-173995400	Weak transcription	Adipose Nuclei	Adipose
16	chr2:173985400-173995400	Weak transcription	Ovary	ovary
17	chr2:173985800-173989800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:173986000-173995000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:173986200-173989800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:173986200-173997200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:173986800-173990000	Enhancers	Fetal Heart	heart
22	chr2:173986800-173995200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:173987000-173990200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:173987200-173989800	Enhancers	Osteobl	bone
25	chr2:173987200-173990200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:173987200-173990200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:173987400-173990400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:173987600-173990200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:173987600-173992000	Enhancers	HMEC	breast
30	chr2:173987800-173989800	Enhancers	Colon Smooth Muscle	Colon
31	chr2:173987800-173990000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:173987800-173990000	Enhancers	NHDF-Ad	bronchial
33	chr2:173987800-173990200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:173988000-173990200	Enhancers	A549	lung
35	chr2:173988000-173990200	Enhancers	GM12878-XiMat	blood
36	chr2:173988000-173991400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:173988000-173999200	Weak transcription	Dnd41	blood
38	chr2:173988200-173989800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
40	chr2:173988400-173990000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:173988400-173990200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:173988600-173989800	Enhancers	HSMM	muscle
43	chr2:173988600-173990000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:173989000-173989800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:173989000-173989800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:173989000-173989800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:173989000-173989800	Enhancers	Right Atrium	heart
48	chr2:173989000-173989800	Enhancers	Stomach Mucosa	stomach
49	chr2:173989000-173989800	Enhancers	NHLF	lung
50	chr2:173989200-173989800	Enhancers	Duodenum Smooth Muscle	Duodenum

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